Human SNP ID | rs10516487 |
---|---|
Human chromosome | chr4 |
Human SNP position | 101829919 |
Pig chromosome | chr8 |
Pig SNP position | 128321011 |
PubMed ID | 18204447 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/18204447 |
Study | Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. |
Disease/Trait | Systemic lupus erythematosus |
Initial sample | 279 European ancestry cases, 515 European ancestry controls |
Replication sample | 1,757 European ancestry cases, 1,540 European ancestry controls |
Region | 4q24 |
Chromosome id | chr4 |
Chromosome position | 101829919 |
Reported gene | BANK1 |
Mapped gene | BANK1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 55024 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs10516487-G |
SNPs | rs10516487 |
Merged | 0 |
SNP id current | 10516487 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.77 |
P value | 0.0000000004 |
Pvalue mlog | 9.39794000867203 |
P value text | |
Or beta | 1.38 |
%95 Ci | [1.25-1.53] |
Platform | Affymetrix [85042] |
CNV | N |
Mapped trait | systemic lupus erythematosus |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0002690 |
Study accession | GCST000143 |
PubMed ID | 26502338 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/26502338 |
Study | Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. |
Disease/Trait | Systemic lupus erythematosus |
Initial sample | 5,201 European ancestry cases, 9,066 European ancestry controls |
Replication sample | NA |
Region | 4q24 |
Chromosome id | chr4 |
Chromosome position | 101829919 |
Reported gene | BANK1 |
Mapped gene | BANK1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 55024 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs10516487-G |
SNPs | rs10516487 |
Merged | 0 |
SNP id current | 10516487 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | |
P value | 0.00000008 |
Pvalue mlog | 7.09691001300805 |
P value text | |
Or beta | 1.16 |
%95 Ci | [NR] |
Platform | Illumina [> 644674] (imputed) |
CNV | N |
Mapped trait | systemic lupus erythematosus |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0002690 |
Study accession | GCST003156 |